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He aha te Fraser Syndrome? Me kōrero tātou mō tēnei mate onge

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📅 Updated: Jul 15, 2026 • ⏱ 8 min read • Kaupapa here ētita
He aha te Fraser Syndrome? Me kōrero tātou mō tēnei mate onge
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He nui te harikoa e kawea mai ana e te pēpi whānau hou ki te whānau. Engari i te wa ano, he mea noa ki a koe, hei whaea, hei matua rānei, te whai i ētahi wehi me ngā ruarua. I ētahi wā, ka whānau mai he tamaiti me tētahi mate tino onge kāore anō kia rongohia e tātou. He uaua ki te whakapuaki i ō tātou kare ā-roto i taua wā. I tēnei rā ka kōrero tātou mō tētahi mate onge, he mate ira, ko te Fraser Syndrome.

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Tuatahi, kia titiro tātou, he aha tēnei mate ira?

He whakarāpopototanga noa iho, ko ngā mea katoa o roto i tō tātou tinana e whakahaeretia ana e ō tātou ira. Ko ngā mea pēnei i te tae o ō tātou makawe, te tae o ngā kanohi, me te teitei ka whakatauhia e ēnei ira. I ētahi wā, ka puta ētahi huringa, ētahi whakarerekētanga rānei, i roto i ēnei ira. Koinei te wā ka puta ai ngā mate ira. Ka kitea ētahi o ēnei i te whānautanga, ko ētahi ka puta i muri mai.

He rite tonu te mate Fraser, he tino onge te āhua ira. Ka puta mai i te tīmatanga o te whanaketanga o te tamaiti i roto i te kōpū. He iti noa iho ngā tāngata o te ao e pāngia ana. Ka taea te pā ki ngā tāne me ngā wāhine.

He aha ngā tohu o te tamaiti e pāngia ana e te Fraser Syndrome?

Ka rerekē pea ngā tohu o tēnei mate i ia tamaiti, i ia tamaiti. Ko te tikanga, ehara i te mea ka kitea ngā tohu ōrite i ia tamaiti. Heoi, he maha ngā tohu matua me ētahi atu e kitea whānuitia ana.

Ko te mea nui kia tirohia te tamaiti e te tākuta hei tautuhi i tēnei mate. Kaua e whakatau tere i runga i ngā tohu kua whakahuatia i konei.

Kei te ripanga i raro nei ētahi o ngā tohu e kitea whānuitia ana i tēnei āhuatanga.

Wāhanga tinana Ngā āhuatanga e kitea ana
Ngā kanohi
  • Kāore ngā kamo e whanake tika ana, kāore rānei e kapi katoatia ana e te kiri. (Ka kiia tēnei ko te Cryptophthalmos , ā, koinei te tohu tino kitea.)
  • He kanohi tino iti (Microphthalmia) he kanohi kore rānei (Anophthalmia).
  • Ngā āhuatanga rerekē o ngā awa roimata.
  • Te tawhiti nui ake i waenga i ngā kanohi (Hypertelorism).
Ringa me ngā Waewae
  • Ngā maihao, ngā matimati rānei e piri ana tetahi ki tetahi ( Syndactyly ).
Ngā whatukuhu
  • Te ngaro o tētahi, o ngā whatukuhu e rua rānei.
  • Kāore ngā whatukuhu e whanake tika ana, e kore rānei e āhua tika.
Pūnaha whakaputa uri (ira tangata)
  • Ngā āhuatanga rerekē e pā ana ki ngā poro, te urethra, te ure rānei i roto i ngā tama.
  • Ngā āhuatanga rerekē e pā ana ki ngā ngongo fallopian, te kōpū, te tara rānei i roto i ngā kōtiro.
Ētahi atu āhuatanga
  • Ngā āhuatanga rerekē o te taringa waenga.
  • Te ngaro o te nono (Anal atresia) te whaiti rānei (Anal stenosis).
  • Arero rua-rua.
  • Ngā āhua hē o te tūnga o ngā niho.

Haunga ēnei tohu, tera pea ētahi atu tohu kāore i te tino kitea. Ki te kite koe i tētahi mea rerekē, rerekē rānei i roto i te tinana o tāu tamaiti, kōrero tonu atu ki tō tākuta .

He aha i puta ai tēnei āhuatanga?

E ai ki tā tātou i kōrero ai i mua, he āhuatanga tēnei i puta mai i tētahi hapa ira. Ina koa, ko ngā panonitanga o ngā ira FRAS1, FREM2, me GRIP1 ngā tino take.

Ka kiia tēnei tauira tuku iho mā roto i ngā ira he 'Autosomal Recessive' . Nā, kia titiro tātou me pēhea te mārama ake ki tēnei.

Whakaarohia kei roto i te tinana o tō whaea rāua ko tō pāpā tētahi tārua o tēnei ira hapa. Engari kāore i a rāua te mate, nā te mea kotahi noa iho te tārua o te ira hapa kei a rāua. Ka karangatia rāua he 'kaituku'.

Nā, ina whānau he tamaiti mā ēnei mātua kawe,

  • E 25% (kotahi i roto i te whā) te tūponotanga ka pāngia te tamaiti e tēnei mate (mēnā ka riro mai i ngā mātua e rua ngā tārua ira hapa).
  • E 50% (kotahi i roto i te rua) te tūponotanga ka noho te tamaiti hei kaikawe i ngā tohu kore mate, pērā i ngā mātua.
  • E 25% te tūponotanga kāore te tamaiti e whiwhi i tēnei ira hapa, ā, ka tino ora ia.

He rite tēnei ki te whiu moni. He rite tonu tēnei mōrearea i roto i ngā hapūtanga katoa.

Me pēhea te tautuhi i tēnei mate?

I te nuinga o te wā ka kitea tēnei mate i mua i te whānautanga o te pēpi, arā, i te wā e hapu ana. Ka whakapaehia tēnei e ngā tākuta mēnā ka kitea he āhuatanga rerekē i roto i ngā whatukuhu, i ngā pukahukahu, i ngā maihao rānei o te pēpi i te wā e mahia ana he matawai ultrasound i waenga i te 18 me te 20 wiki. Ka aro nui ngā tākuta ki tēnei, inā koa mēnā kua pāngia tētahi o te whānau e tēnei mate i mua.

I ētahi wā, ki te kore e taea te kite i te matawai, ka tātaritatia te mate i runga i ngā āhuatanga ā-tinana i te whānautanga. Ka taea hoki te whakahaere whakamātautau ira hei whakaū i te tātaritanga.

Ā, me pēhea te maimoatanga me te heke mai o te tamaiti?

Kāore anō kia kitea he rongoā mō te mate Fraser. Engari, ehara i te mea kāore he mea ka taea e koe te mahi. Ko te whāinga matua o te maimoatanga he whakahaere i ngā tohu o te tamaiti, me te hoatu ki a ia te kounga pai rawa atu o te oranga.

  • Pokanga: Ka taea te whakatika i ētahi āhuatanga kino o te tinana (hei tauira, te patupatu o ngā maihao, te pīkoki o ngā kanohi) mā te pokanga.
  • Manaaki Tautoko: Koinei te mea tino nui. Me whiwhi te tamaiti i ngā ratonga a tētahi tīma hauora e titoa ana e ngā tohunga rerekē. Hei tauira, ka mahi tahi te tākuta tamariki, te tākuta roro, me te taote kanohi ki te whakawhanake i tētahi mahere maimoatanga mō te tamaiti.

Ko te roanga o te oranga o te tamaiti e whakawhirinaki ana ki te kaha o ngā tohu. Mēnā he nui ngā raruraru manawa, ngā raruraru tākihi rānei , ka tūpono ētahi tamariki ki te mate i te tau tuatahi o te oranga. Heoi, ko te nuinga o ngā tamariki kāore he raruraru nui ka taea te noho noa .

He mea tino nui te tohutohu ira i roto i ēnei āhuatanga. Mā tēnei, ka taea e koe te mārama ki te āhua tuturu o tēnei mate, ngā mōrearea ka pā ki ētahi atu mema o te whānau, me ngā hāputanga a meake nei. Pātai atu ki tō tākuta mō tēnei.

Karere Tangohia ki te Kāinga

  • He tino onge te mate Fraser Syndrome e hua mai ana i tētahi hapa ira.
  • Ko ngā tohu matua ko ngā āhuatanga rerekē o ngā kanohi, o ngā maihao, o ngā whatukuhu, me te pūnaha whakaputa uri.
  • Ka kitea pea tēnei i te wā o te matawai ultrasound i te wā e hapu ana, i te whānautanga rānei.
  • Ahakoa kāore e taea te whakaora katoa, ka taea e te pokanga me te manaaki tautoko te whakahaere i ngā tohumate o te tamaiti me te whakapai ake i te kounga o tōna oranga.
  • He wero te tiaki i tētahi tamaiti pēnei. Me tautoko e tētahi rōpū tohunga, me aroha te whānau, me te tautoko hoki a ētahi atu mātua . Kia maumahara kāore koe i te mokemoke.
  • Ki te whakapae koe kei tō tamaiti tēnei mate, kaua e mataku , engari me toro atu ki tō tākuta tonu mō ētahi tohutohu.
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